Summary
A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.
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Bonneau, D., Huret, J.L., Godeau, G. et al. Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. Hum Genet 87, 317–319 (1991). https://doi.org/10.1007/BF00200911
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DOI: https://doi.org/10.1007/BF00200911